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HLA-C

Summary: HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described [provided by RefSeq, Jul 2008].

Name	OMIM ID	Ensembl ID	HGNC ID	PHARMGKB ID	Map Location
major histocompatibility complex, class I, C	MIM:142840	Ensembl:ENSG00000204525	HGNC:HGNC:4933	PA35057	6p21.33

Gene Categories:

DRUGGABLE GENOME CELL SURFACE

GO terms in HLA-C

Term Type	Evidence Type	GO Term ID	GO Des.
BP	IBA	GO:0001916	positive regulation of T cell mediated cytotoxicity
BP	IBA	GO:0002474	antigen processing and presentation of peptide antigen via MHC class I
BP	TAS	GO:0002474	antigen processing and presentation of peptide antigen via MHC class I
BP	IBA	GO:0002476	antigen processing and presentation of endogenous peptide antigen via MHC class Ib
BP	TAS	GO:0002479	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent
BP	TAS	GO:0002480	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent
BP	IBA	GO:0006955	immune response
BP	IEA	GO:0016032	viral process
BP	TAS	GO:0050776	regulation of immune response
BP	TAS	GO:0060333	interferon-gamma-mediated signaling pathway
BP	TAS	GO:0060337	type I interferon signaling pathway
CC	TAS	GO:0000139	Golgi membrane
CC	ISS	GO:0005783	endoplasmic reticulum
CC	ISS	GO:0005794	Golgi apparatus
CC	IBA	GO:0005886	plasma membrane
CC	TAS	GO:0005886	plasma membrane
CC	ISS	GO:0009986	cell surface
CC	TAS	GO:0012507	ER to Golgi transport vesicle membrane
CC	TAS	GO:0030670	phagocytic vesicle membrane
CC	TAS	GO:0031901	early endosome membrane
CC	ISS	GO:0042612	MHC class I protein complex
CC	TAS	GO:0055038	recycling endosome membrane
CC	TAS	GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane
MF	IBA	GO:0005102	signaling receptor binding
MF	IPI	GO:0005515	protein binding
MF	IBA	GO:0042605	peptide antigen binding
MF	ISS	GO:0042605	peptide antigen binding

Gene expression in normal tissue: HLA-C

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Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in HLA-C

Database	Pathway ID	Pathway Des.
wikipathways	WP183	Proteasome Degradation
wikipathways	WP2328	Allograft Rejection
kegg	hsa04144	Endocytosis - Homo sapiens (human)
kegg	hsa04145	Phagosome - Homo sapiens (human)
kegg	hsa04218	Cellular senescence - Homo sapiens (human)
kegg	hsa04514	Cell adhesion molecules (CAMs) - Homo sapiens (human)
kegg	hsa04612	Antigen processing and presentation - Homo sapiens (human)
kegg	hsa04650	Natural killer cell mediated cytotoxicity - Homo sapiens (human)
kegg	hsa04940	Type I diabetes mellitus - Homo sapiens (human)
kegg	hsa05165	Human papillomavirus infection - Homo sapiens (human)
kegg	hsa05166	HTLV-I infection - Homo sapiens (human)
kegg	hsa05167	Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human)
kegg	hsa05168	Herpes simplex infection - Homo sapiens (human)
kegg	hsa05169	Epstein-Barr virus infection - Homo sapiens (human)
kegg	hsa05203	Viral carcinogenesis - Homo sapiens (human)
kegg	hsa05320	Autoimmune thyroid disease - Homo sapiens (human)
kegg	hsa05330	Allograft rejection - Homo sapiens (human)
kegg	hsa05332	Graft-versus-host disease - Homo sapiens (human)
kegg	hsa05416	Viral myocarditis - Homo sapiens (human)
reactome	R-HSA-1236974	ER-Phagosome pathway
reactome	R-HSA-1236974	ER-Phagosome pathway
reactome	R-HSA-1236975	Antigen processing-Cross presentation
reactome	R-HSA-1236975	Antigen processing-Cross presentation
reactome	R-HSA-1236977	Endosomal/Vacuolar pathway
reactome	R-HSA-1280215	Cytokine Signaling in Immune system
reactome	R-HSA-1280218	Adaptive Immune System
reactome	R-HSA-1280218	Adaptive Immune System
reactome	R-HSA-168249	Innate Immune System
reactome	R-HSA-168256	Immune System
reactome	R-HSA-168256	Immune System
reactome	R-HSA-198933	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
reactome	R-HSA-6798695	Neutrophil degranulation
reactome	R-HSA-877300	Interferon gamma signaling
reactome	R-HSA-909733	Interferon alpha/beta signaling
reactome	R-HSA-913531	Interferon Signaling
reactome	R-HSA-983169	Class I MHC mediated antigen processing & presentation
reactome	R-HSA-983169	Class I MHC mediated antigen processing & presentation
reactome	R-HSA-983170	Antigen Presentation: Folding, assembly and peptide loading of class I MHC
reactome	R-HSA-983170	Antigen Presentation: Folding, assembly and peptide loading of class I MHC

Gene-Drug: Aster Plot

Drug ID	Drug Name	Model Num.
iGMDRD748	PHA-665752	2
iGMDRD806	Adoptive T-cell Transfer	1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in HLA-C

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